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Personalised Medicine

Personalised Medicine

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The essay focuses on how Gene sequencing is been used to help identify molecular markers for predisposing testing, disease screening and markers used to predict and monitor drug response.
The essay focuses on how Gene sequencing is been used to help identify molecular markers for predisposing testing, disease screening and markers used to predict and monitor drug response.

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Published by: Undergraduate Awards on Sep 01, 2012
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10/27/2013

 
Animal Genomics Project:Personalised MedicineStudent Names:
 
Martin Breen &Kevin Oxx
Date:
 
20-11-2007
This project is for submission to David Mac Hugh as part of the courserequirements for Genomics.
 
Introduction
Over the last decade huge advances have been made in personalizedmedicine through genome research. Gene sequencing is been used tohelp identify molecular markers for predisposing testing, diseasescreening and markers used to predict and monitor drug response. Fromthe discovery of the double helix by Watson and Crick (1953) it was 15years later before the first DNA sequencing took place. Crucial to thedevelopments of DNA sequencing were two main projects; the US HumanGenome Project and the Celera Genomics. Information from theseprojects is helping to shift the focus from treating advanced stages of thedisease, often where very little can be done to prevention and earlyintervention. Geoffrey S. Ginsburg (2002) states people will be able tomake informed decisions about their lifestyle and future well-being as thelink is made between the individuals molecular and clinical profiles. Withthe completion of the Human Genome Project, people have begun towonder whether personalised medicine is a distinct possibility. Well,according to LJ Lesko (2007), “personalised medicine is a paradigm thatexists more in conceptual terms than in reality”. Personalised medicineseeks to change from the trial-and-error practice of medicine to moreprecise marker-assisted diagnosis and treatment. Joanne M Meyer (2002)states that the ultimate goal of personalised medicine is to provide a suiteof markers that can, access in the presence of various environmental(e.g.diet, place of birth etc) variables an individuals lifetime risk of developinga disease. Clyde A. (2007) states that new sequencing methods aregreatly increasing the capacity at which genome sequencing is takingplace but further innovations are needed to achieve the “thousand dollargenome”. This relates to the $10 million Archon X prize for genomics,working in the area of personalised medicine. (http://genomics.xprize.org/)
Science Surrounding Personalised Medicine
Understanding the sequence concept
 The importance of sequencing in biological macromolecules was firstshown by Sanger’s studies of insulin. Here proteins were identified aslinear polypeptides formed by joining amino acid residues in a definedorder (Base pairing). Therefore when the double-helical structure of DNAwas proposed it became apparent of its importance in base pairingWatson, J.D. et al (1953). This breakthrough would answer the question of how the base sequence of the DNA gene determines the amino acidsequence of a protein. However it was 15 years before the firstexperimental determination of a DNA sequence and this was due to a
 
number of reasons. These included the fact that the chain length of naturally occurring DNA was much greater than for proteins.Developments did come in the form of RNA as it doesn’t share many of the drawbacks associated with DNA sequencing. RNAases with basespecificity were known and consequently
Escherichia coli
alanine tRNA in1965 became the first nucleic acid to be sequenced. Sinsheimer, R.L.(1959) states that the first DNA molecule purified to homogeneity was thegenome of bacteriophage X174. Another major breakthrough came with
φ
 the discovery of type II restriction enzymes by Hamilton smith and histeam of scientists. These enzymes had the ability to recognise and cleaveDNA at specific short nucleotide sequences. The restriction enzymes thenbecame used as a tool for the cutting of large DNA molecules into anumber of small pieces that could, using gel electrophoresis or 2Dchromatography be separated by size. The separation method used wascritical in relation to the size of the fragments that could be analysed. These methods weren’t able to determine complete gene sequences butimportant regulatory signals were sequenced for e.g. the
E. Coli
 
lac
operon and phage lambda.Gel-based DNA sequencing methods became of importance during 1975with the plus and minusmethod of DNA sequencing. Herepolyacrylamide gels were used to separate the products of primedsynthesis by DNA polymerases. DNA polymerase reactions extended aprimer to a single stranded DNA template. Problems were associated withthis method i.e. no bands are produced for positions internal to runs but in1977 Sanger developed “the dideoxy method”. The use of gel-basedsequencing methods accelerated the rate of DNA sequencing.Improvements in the useful read length of dideoxy sequencing cameabout by using narrower gels and replacing
32
P labelling of DNA with
35
Slabelling.
Single and multi gene disease traits
Since the 1950’s genetics has become an important part of medicalresearch and practice with single defective genes being the focus of thefirst studies carried out. The basis of modern genetics originated from theAustrian monk Gregor Mendel and his laws of inheritance. Single traitdisease include sickle cell anaemia, Duchenne muscular dystrophy etc.while Williams E. Evans (2004) states that the defective gene coding for TPMT arises from individuals caring both copies of the gene, occurs in onein 300 patients. TPMT results in the accumulation of the active compoundsof purine drugs. This can have a potentially fatal bone marrow reactionresulting in the lowering of white blood cell count.

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